Results 181 to 190 of about 591,821 (395)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Skeletal Muscle Pathology in Pulmonary Arterial Hypertension and Its Contribution to Exercise Intolerance

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Pulmonary arterial hypertension is a disease of the pulmonary vasculature, resulting in elevated pressure in the pulmonary arteries and disrupting the physiological coordination between the right heart and the pulmonary circulation.
Thaís C. F. Menezes, Michael H. Lee, Dara C. Fonseca Balladares, Kevin Nolan, Sankalp Sharma, Rahul Kumar, Eloara V. M. Ferreira, Brian B. Graham, Rudolf K. F. Oliveira   +8 more
doaj   +1 more source

Plasma HGF and OPN as Potential Biomarkers of Pulmonary Arterial Hypertension in Congenital Heart Disease

, 2021
Dongdong Zheng, Chi Shen, Wenshi Liu, Wenjing Lv, Xiaofei Li   +4 more
openalex   +1 more source

Untargeted metabolomics towards understanding molecular mechanisms of pulmonary arterial hypertension [PDF]

, 2021
Renata Wawrzyniak, Alicja Dąbrowska-Kugacka, Szymon Macioszek, I Gockowska, Margot Biesemans, A. Superti Furga, B Zieba, Ewa Lewicka, Michał J. Markuszewski   +8 more
openalex   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Hot topics in the mechanisms of pulmonary arterial hypertension disease: cancer-like pathobiology, the role of the adventitia, systemic involvement, and right ventricular failure

Pulmonary Circulation, 2019
In order to intervene appropriately and develop disease-modifying therapeutics for pulmonary arterial hypertension, it is crucial to understand the mechanisms of disease pathogenesis and progression.
Edda Spiekerkoetter, Elena A. Goncharova, Christophe Guignabert, Kurt Stenmark, Grazyna Kwapiszewska, Marlene Rabinovitch, Norbert Voelkel, Harm J. Bogaard, Brian Graham, Soni S. Pullamsetti, Wolfgang M. Kuebler   +10 more
doaj   +1 more source

LONG TERM EXPERIENCE WITH BOSENTAN IN PATIENTS WITH PULMONARY ARTERIAL HYPERTENSION (PAH) ASSOCIATED WITH ADVANCED IDIOPATHIC PULMONARY FIBROSIS (IPF) AND INTERSTITIAL LUNG DISEASE (ILD): A RETROSPECTIVE CASE SERIES [PDF]

, 2005
Ganesh Raghu, Jennifer Hayes, C. Spada, Jeffrey Moniz, Steve Yang   +4 more
openalex   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

Annals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko, Gargi Banerjee, Dermot Mallon, Kitti Thiankhaw, Rupert Oliver, Victoria Harvey, Gareth Ambler, Michael Zandi, Hans Rolf Jäger, David J. Werring   +9 more
wiley   +1 more source

TREATMENT OF SARCOIDOSIS-ASSOCIATED PULMONARY ARTERIAL HYPERTENSION WITH BOSENTAN [PDF]

, 2007
Christian Bimenyuy, J. M. Bourbonnais, Lobelia Samavati   +2 more
openalex   +1 more source